Product Details

SNP ID
rs116633211
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:19882589 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGTCTTGAAGAAGTCTCTTTCAAA[C/T]ACTCCTTTCCGGGCAAAAATGGTAG
Phenotype
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
EFHB PubMed Links

Gene Details

Gene
EFHB
Gene Name
EF-hand domain family member B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_144715.3 2045 Silent Mutation GTA,GTG V763V NP_653316.3
XM_005264889.1 2045 Missense Mutation TAT,TGT Y756C XP_005264946.1
XM_011533382.1 2045 Silent Mutation GTA,GTG V742V XP_011531684.1
XM_011533383.2 2045 Silent Mutation GTA,GTG V385V XP_011531685.2
XM_011533385.2 2045 Silent Mutation GTA,GTG V552V XP_011531687.1
XM_017005741.1 2045 Silent Mutation GTA,GTG V633V XP_016861230.1
XM_017005742.1 2045 Intron XP_016861231.1
XM_017005743.1 2045 Silent Mutation GTA,GTG V385V XP_016861232.1
XM_017005744.1 2045 Silent Mutation GTA,GTG V385V XP_016861233.1
XM_017005745.1 2045 Missense Mutation TAT,TGT Y378C XP_016861234.1

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